Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Mouth Abnormalities (D009056)
..Starting node ..Macrostomia (D008265)
Child Nodes:
........Ablepharon macrostomia syndrome (C535557)
........Barber Say syndrome (C537908)
........Mandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)
Sister Nodes:
..Ankyloglossia (C562396)
..Calabro syndrome (C537960)
..Cleft Lip (D002971) 59
..Cleft Palate (D002972) 103
..Cleft Palate-Lateral Synechia Syndrome (C563047)
..Contractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)
..Fibromatosis, Gingival (D005351) 11
..Jagell Holmgren Hofer syndrome (C537364)
..Macrostomia (D008265) 3
..Microstomia (D008865) 4
..Taurodontism, microdontia, and dens invaginatus (C536947)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Velopharyngeal Insufficiency (D014681)
..Verloove-Vanhorick Brubakk syndrome (C536541)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6672
Name:	Macrostomia
Definition:	Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)
Alternative IDs:	OMIM:613545
ParentIDs:	MESH:D009056
TreeNumbers:	C07.465.525.480 \|C07.650.525.480 \|C16.131.850.525.480
Synonyms:	COMMISSURAL CLEFT, ISOLATED \|LATERAL CLEFT, ISOLATED \|MACROSTOMIA, ISOLATED \|Macrostomias \|TRANSVERSE CLEFT, ISOLATED
Slim Mappings:	Congenital abnormality\|Mouth disease
Reference:	MedGen: D008265 MeSH: D008265 OMIM: 613545; Genes:
Phenotypes
Disease Causing ClinVar Variants